Composite assay for developmental disorders

Abstract

This invention relates generally to diagnosing developmental disorders by detecting two or more genetic characteristics from a nucleic acid extracted from a sample taken from a patient. The genetic characteristics detected include nucleic acid expression profiles, nucleic acid sequences, and nucleic acid copy numbers. The genetic characteristics may be detected using sequencing technology, array based technology, or both. At least two genetic characteristics are compared to respective controls. From the comparison a diagnostic profile of a developmental disorder for the patient is formed.

Description

RELATED APPLICATION[0001]The present patent application claims the benefit of and priority to U.S. Provisional Patent Application Ser. No. 61 / 583,699, filed on Jan. 6, 2012, the entirety of which is herein incorporated by reference.FIELD OF THE INVENTION[0002]This invention relates generally to diagnosing autism and other developmental disorders.BACKGROUND INFORMATION[0003]Autism and other developmental disorders disrupt the normal development of children and are estimated to affect 1 in 110 children. Developmental disorders may include mental disabilities, physical disabilities, or both. Typically, developmental disorders are diagnosed by observing and assessing a child's behavior, including an assessment of the child's cognitive and communicative functions. Although clinical evaluations are a useful tool in assessing a child's developmental delay, such evaluations are limited because a child's behavior is often transient and a child might not be exhibiting diagnostic behavior oddi...

AI Technical Summary

Benefits of technology

[0005]The invention provides methods for assessing a cognitive disorder by taking into account underlying genetic information as well as gene expression data. Methods of the invention result in improved ability to diagnose the presence of a disorder as well as the ability to distinguish between developmental disorders.

Problems solved by technology

Although clinical evaluations are a useful tool in assessing a child's developmental delay, such evaluations are limited because a child's behavior is often transient and a child might not be exhibiting diagnostic behavior oddities on the day of the evaluation.

Further, the evaluations often fail to indentify the specific cause of the delay.

Thus, clinical evaluations often fail to provide a definitive diagnosis of a developmental disorder.

Moreover, expression data are uninformative for some 50% of children suspected to have a developmental disorder.

As a result, monolithic tests for developmental disorders fail to either accurately diagnose or accurately stage a disorder once diagnosed.